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J Inherit Metab Dis. 2019 Nov 1. doi: 10.1002/jimd.12186. [Epub ahead of print]

Phenylketonuria, co-morbidity, and ageing: A review.

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Department of Ageing and Complex Medicine, Salford Royal NHS Foundation Trust, Salford Care Organisation, Part of Northern Care Alliance NHS Group, Salford, UK.
Department of dietetics, Birmingham Women's and Children's NHS Trust, Birmingham, UK.
National Society for Phenylketonuria, Preston, UK.


Phenylketonuria (PKU) is a metabolic condition which, left untreated, results in severe and irreversible brain damage. Newborn screening and the development of the low phenylalanine (Phe) diet have transformed the outcomes for people with PKU. Those who have benefited from early treatment are now approaching their fifth and sixth decade. It is therefore timely to consider multi-morbidity in PKU and the effects of ageing, in parallel with the wider benefits of emerging treatment options in addition to dietary relaxation. We have conducted the first literature review of co-morbidity and ageing in the context of PKU. Avenues explored have emerged from limited study of multi-morbidity to date and the knowledge and critical enquiry of the authors. Findings suggest PKU to have a wider impact than brain development, and result in several intriguing questions that require investigation to attain the best outcomes for people with PKU in adulthood moving through to older age. We recognise the difficulty in studying longitudinal outcomes in rare diseases and emphasise the necessity to develop PKU registries and cohorts that facilitate well-designed studies to answer some of the questions raised in this review. Whilst awaiting new information in these areas we propose that clinicians engage with patients to make personalised and well-informed decisions around Phe control and assessment for co-morbidity.


adult; ageing; co-morbidity; multi-morbidity; phenylketonuria; review


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